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NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 24, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002312956.9

Allele description [Variation Report for NM_001110792.2(MECP2):c.1032C>T (p.Ser344=)]

NM_001110792.2(MECP2):c.1032C>T (p.Ser344=)

Gene:
MECP2:methyl-CpG binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=)
Other names:
NM_001110792.2(MECP2):c.1032C>T; p.Ser344=
HGVS:
  • NC_000023.11:g.154030832G>A
  • NG_007107.3:g.111272C>T
  • NM_001110792.2:c.1032C>TMANE SELECT
  • NM_001316337.2:c.717C>T
  • NM_001369391.2:c.717C>T
  • NM_001369392.2:c.717C>T
  • NM_001369393.2:c.717C>T
  • NM_001369394.2:c.717C>T
  • NM_001386137.1:c.327C>T
  • NM_001386138.1:c.327C>T
  • NM_001386139.1:c.327C>T
  • NM_004992.4:c.996C>T
  • NP_001104262.1:p.Ser344=
  • NP_001303266.1:p.Ser239=
  • NP_001356320.1:p.Ser239=
  • NP_001356321.1:p.Ser239=
  • NP_001356322.1:p.Ser239=
  • NP_001356323.1:p.Ser239=
  • NP_001373066.1:p.Ser109=
  • NP_001373067.1:p.Ser109=
  • NP_001373068.1:p.Ser109=
  • NP_004983.1:p.Ser332=
  • NP_004983.1:p.Ser332=
  • LRG_764t1:c.1032C>T
  • LRG_764t2:c.996C>T
  • AJ132917.1:c.996C>T
  • LRG_764:g.111272C>T
  • LRG_764p1:p.Ser344=
  • LRG_764p2:p.Ser332=
  • NC_000023.10:g.153296283G>A
  • NG_007107.2:g.111296C>T
  • NM_004992.3:c.996C>T
Links:
dbSNP: rs148744894
NCBI 1000 Genomes Browser:
rs148744894
Molecular consequence:
  • NM_001110792.2:c.1032C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001316337.2:c.717C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369391.2:c.717C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369392.2:c.717C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369393.2:c.717C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001369394.2:c.717C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386137.1:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386138.1:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001386139.1:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004992.4:c.996C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000849129Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Feb 24, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000849129.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024